ORPHA:93360
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Synonyms: SEMD-MD · SEMDJL2 · Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type · Spondyloepimetaphyseal dysplasia with joint laxity type 2 · Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type | SEMD-MD · SEMDJL2 · Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type · Spondyloepimetaphyseal dysplasia with joint laxity type 2 · Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type |
| fr | Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type leptodactylique | Dysplasie spondylo-épimétaphysaire avec dislocations multiples, type Hall · Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 2 · Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type Hall · Dysplasie spondylo-épimétaphysaire avec luxations multiples · Dysplasie spondylo-épimétaphysaire avec luxations multiples type leptodactylique · SEMD-MD · SEMDJL2 |
| de | Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ | Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ · SEMD-MD · SEMDJL2 · Spondyloepimetaphysäre Dysplasie mit multiplen Luxationen vom Typ Hall · Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Typ 2 · Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Typ Hall |
| es | Displasia espondiloepimetafisaria con laxitud articular tipo leptodactilia | SEMDJL2 · Displasia espondiloepimetafisaria con laxitud articular tipo 2 · Displasia espondiloepimetafisaria con laxitud articular tipo Hall · Displasia espondiloepimetafisaria con luxaciones múltiples tipo Hall · SEMD-MD |
| it | Displasia spondiloepimetafisaria con lassit articolare, tipo leptodattilico | 'Displasia spondiloepimetafisaria con lassità articolare, tipo 2' · 'Displasia spondiloepimetafisaria con lassità articolare, tipo Hall' · Displasia spondiloepimetafisaria con dislocazioni multiple, tipo Hall · Displasia spondiloepimetafisaria con lassit articolare, tipo 2 · Displasia spondiloepimetafisaria con lassit articolare, tipo Hall · Displasia spondiloepimetafisaria con lassità articolare, tipo 2 · Displasia spondiloepimetafisaria con lassità articolare, tipo Hall · Displasia spondiloepimetafisaria con lassità articolare, tipo leptodattilico · SEMD-MD · SEMDJL2 |
| nl | Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit, leptodactylie-type | SEMD-MD · SEMDJL2 · Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 2 · Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit, Hall-type |
| pt | Displasia espondiloepimetafisária com hipermobilidade articular, tipo leptodactilia | Displasia espondiloepimetafisiária com luxações múltiplas, tipo Hall · Displasia espondiloepimetafisária com hipermobilidade articular tipo 2 · Displasia espondiloepimetafisária com hipermobilidade articular, tipo Hall · SEMD-MD · SEMDJL2 |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa z wielokrotnymi przemieszczeniami | Dysplazja kręgowo-nasadowo-przynasadowa z wielokrotnymi przemieszczeniami, typ Hall · Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów typu 2 · Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów typu, typ Hall · SEMDJL2 · SEMD-MD · Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów, ze smukłymi palcami |
| cs | Spondyloepimetafyzární dysplázie s mnohočetnými dislokacemi | SEMD-MD · SEMDJL2 · Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, Hallův typ · Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, typ 2 · Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, leptodaktylní typ · Spondyloepimetafyzární dysplázie s mnohočetnými dislokacemi, Hallův typ |
| uk | Спондилоепіметафізарна дисплазія з розхитаністю суглобів, лептодактилійний (жабячий) тип | SEMDJL2 · SEMD-MD · Спондилоепіметафізарна дисплазія з розхитаністю суглобів, тип Холла · Спондилоепіметафізарна дисплазія з розхитаністю суглобів 2 типу · Спондилоепіметафізарна дисплазія з множинними вивихами, тип Холла |
| zh | 脊椎干骺端发育不良伴多发性脱位 | 脊椎干骺端发育不良伴多发性脱位，Hall型 |
| tr | Çoklu çıkıklar ile seyreden spondiloepimetafizyal displazi | SEMD-MD · SEMDJL2 · Eklem gevşekliği tip 2 ile seyreden spondiloepimetafizyal displazi · Eklem gevşekliği ile seyreden spondiloepimetafizyal displazi, Hall tipi · Eklem gevşekliği ile seyreden spondiloepimetafizyal displazi, leptodaktilik tip · çoklu çıkıklar ile seyreden spondiloepimetafizyal displazi, Hall tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603546 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0011335 | E | validated | |
| MONDO | 11335 | E | validated | |
| MeSH | C535784 | E | validated | |
| UMLS | C1863732 | E | validated | |
| GARD | 9866 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF22 | Disease-causing germline mutation(s) in | Assessed | HGNC:6391 | ENSG00000079616 | 603213 | 16p11.2 | kinesin family member 22 | 22152677[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
41 annotations · validated 2021-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0001382 | Joint hypermobility | |
| HP:0011800 | Midface retrusion | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001832 | Abnormal metatarsal morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0010674 | Abnormality of the curvature of the vertebral column | |
| HP:0006014 | Abnormally shaped carpal bones | |
| HP:0009815 | Aplasia/hypoplasia of the extremities | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0012368 | Flat face | |
| HP:0100168 | Fragmented epiphyses | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0003025 | Metaphyseal irregularity | |
| HP:0031367 | Metaphyseal striations | |
| HP:0012095 | Multiple joint dislocation | |
| HP:0008857 | Neonatal short-trunk short stature | |
| HP:0000926 | Platyspondyly | |
| HP:0003088 | Premature osteoarthritis | |
| HP:0001238 | Slender finger | |
| HP:0006236 | Slender metacarpals | |
| HP:0001518 | Small for gestational age | |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
| Occasional (29-5%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003370 | Flat capital femoral epiphysis | |
| HP:0002827 | Hip dislocation | |
| HP:0030043 | Hip subluxation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002808 | Kyphosis | |
| HP:0004875 | Neonatal inspiratory stridor | |
| HP:0003048 | Radial head subluxation | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0005619 | Thoracolumbar kyphosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 22152677[PMID]_22152678[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93360
- This record as JSON: /data/d/93360.json